Canonical Allele Identifier: CA2645706406
Gene: CPT2 HGNC NCBI

Linked Data

gnomAD v4: 1-53196730-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196730T>G , CM000663.2:g.53196730T>G GRCh38
NC_000001.10:g.53662402T>G , CM000663.1:g.53662402T>G GRCh37
NC_000001.9:g.53434990T>G NCBI36
NG_008035.1:g.5302T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-214T>G ENSP00000360541.3:n.-214T>G
NM_000098.2:c.-214T>G NP_000089.1:n.-214T>G
NM_001330589.1:c.-214T>G NP_001317518.1:n.-214T>G